Linked Data
ClinVar Variation Id:
134655
dbSNP Id:
rs587778446
ExAC:
7:116397698 G / A
gnomAD v2:
7-116397698-G-A
gnomAD v3:
7-116757644-G-A
gnomAD v4:
7-116757644-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116757644G>A , CM000669.2:g.116757644G>A | GRCh38 |
| NC_000007.13:g.116397698G>A , CM000669.1:g.116397698G>A | GRCh37 |
| NC_000007.12:g.116184934G>A | NCBI36 |
| NG_008996.1:g.90240G>A , LRG_662:g.90240G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422097.2:c.1972G>A | ENSP00000398776.2:p.Val658Ile | |
| ENST00000436117.3:c.1972G>A | ENSP00000410980.2:p.Val658Ile | |
| ENST00000318493.11:c.1972G>A | ENSP00000317272.6:p.Val658Ile | |
| ENST00000397752.8:c.1972G>A MANE Select | ENSP00000380860.3:p.Val658Ile | |
| ENST00000318493.10:c.1972G>A | ENSP00000317272.6:p.Val658Ile | |
| ENST00000397752.7:c.1972G>A | ENSP00000380860.3:p.Val658Ile | |
| ENST00000436117.2:c.1972G>A | ENSP00000410980.2:p.Val658Ile | |
| NM_000245.2:c.1972G>A | NP_000236.2:p.Val658Ile | |
| NM_001127500.1:c.1972G>A , LRG_662t1:c.1972G>A | NP_001120972.1:p.Val658Ile | |
| XM_006715990.2:c.682G>A | XP_006716053.1:p.Val228Ile | |
| XM_006715991.2:c.682G>A | XP_006716054.1:p.Val228Ile | |
| XM_011516223.1:c.2029G>A | XP_011514525.1:p.Val677Ile | |
| NM_000245.3:c.1972G>A | NP_000236.2:p.Val658Ile | |
| NM_001127500.2:c.1972G>A | NP_001120972.1:p.Val658Ile | |
| NM_001324401.1:c.1972G>A | NP_001311330.1:p.Val658Ile | |
| NM_001324402.1:c.682G>A | NP_001311331.1:p.Val228Ile | |
| XR_001744772.1:n.2203G>A | ||
| NM_001127500.3:c.1972G>A | NP_001120972.1:p.Val658Ile | |
| NM_000245.4:c.1972G>A MANE Select | NP_000236.2:p.Val658Ile | |
| NM_001324401.2:c.1972G>A | NP_001311330.1:p.Val658Ile | |
| NM_001324402.2:c.682G>A | NP_001311331.1:p.Val228Ile | |
| NM_001324401.3:c.1972G>A | NP_001311330.1:p.Val658Ile |